Variant report

Variant	nsv819735
Chromosome Location	chr14:55319809-55326052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:55324504-55324894	GM12878	blood:	n/a	n/a
2	BHLHE40	chr14:55321002-55321199	GM12878	blood:	n/a	chr14:55321119-55321135
3	CEBPB	chr14:55324871-55324921	HepG2	liver:	n/a	chr14:55324900-55324911 chr14:55324878-55324891 chr14:55324879-55324890
4	CHD1	chr14:55324236-55324310	GM12878	blood:	n/a	n/a
5	CHD2	chr14:55322938-55323049	HepG2	liver:	n/a	n/a
6	CHD2	chr14:55321002-55321034	GM12878	blood:	n/a	n/a
7	CTCF	chr14:55324460-55324610	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr14:55324440-55324590	HAc	cerebellar:	n/a	n/a
9	CTCF	chr14:55321064-55321148	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:55321068-55321159	GM19239	blood:	n/a	n/a
11	CTCF	chr14:55321069-55321105	GM19240	blood:	n/a	n/a
12	CTCF	chr14:55321061-55321171	GM12891	blood:	n/a	n/a
13	CUX1	chr14:55324590-55324940	GM12878	blood:	n/a	n/a
14	EBF1	chr14:55324557-55324983	GM12878	blood:	n/a	chr14:55324764-55324775
15	EBF1	chr14:55324529-55324971	GM12878	blood:	n/a	chr14:55324764-55324775
16	EBF1	chr14:55324552-55324904	GM12878	blood:	n/a	chr14:55324764-55324775
17	ELF1	chr14:55320923-55321257	GM12878	blood:	n/a	n/a
18	ETS1	chr14:55320913-55321280	GM12878	blood:	n/a	chr14:55321104-55321115 chr14:55321103-55321114 chr14:55321103-55321117
19	GABPA	chr14:55320892-55321247	H1-hESC	embryonic stem cell:	n/a	n/a
20	GATA3	chr14:55320427-55320617	SH-SY5Y	brain:	n/a	n/a
21	GTF2F1	chr14:55320957-55321017	H1-hESC	embryonic stem cell:	n/a	n/a
22	IKZF1	chr14:55324689-55324924	GM12878	blood:	n/a	n/a
23	MAZ	chr14:55321127-55321149	GM12878	blood:	n/a	n/a
24	MXI1	chr14:55320942-55321178	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr14:55321087-55321159	MCF-7	breast:	n/a	n/a
26	MYC	chr14:55321064-55321173	MCF-7	breast:	n/a	n/a
27	MYC	chr14:55321025-55321188	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:55319711-55319824	ProgFib	skin:	n/a	n/a
29	POLR2A	chr14:55323012-55323024	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:55323000-55323002	MCF-7	breast:	n/a	n/a
31	POLR2A	chr14:55323003-55323027	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:55321010-55321188	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:55323044-55323048	MCF-7	breast:	n/a	n/a
34	POLR2A	chr14:55322964-55323020	Gliobla	brain:	n/a	n/a
35	RAD21	chr14:55320866-55321236	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr14:55320963-55321212	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr14:55321044-55321105	K562	blood:	n/a	n/a
38	RFX5	chr14:55321648-55321718	K562	blood:	n/a	n/a
39	RUNX3	chr14:55324536-55324917	GM12878	blood:	n/a	n/a
40	RUNX3	chr14:55324571-55324890	GM12878	blood:	n/a	n/a
41	SIN3A	chr14:55320950-55321150	H1-hESC	embryonic stem cell:	n/a	n/a
42	SPI1	chr14:55324637-55324973	GM12878	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
43	SPI1	chr14:55324608-55325117	HL-60	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
44	SPI1	chr14:55324500-55325189	GM12878	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
45	SPI1	chr14:55324716-55324871	GM12878	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
46	SPI1	chr14:55324570-55324997	GM12891	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
47	SPI1	chr14:55320909-55321200	GM12891	blood:	n/a	n/a
48	SPI1	chr14:55324531-55325031	GM12891	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
49	TBP	chr14:55320964-55321167	H1-hESC	embryonic stem cell:	n/a	n/a
50	TCF12	chr14:55320935-55321193	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55319568..55322164-chr14:55323468..55326255,2	MCF-7	breast:
2	chr14:55315509..55317878-chr14:55318793..55321643,2	MCF-7	breast:
3	chr14:55318980..55321872-chr14:55325743..55328118,2	K562	blood:
4	chr14:55323533..55325567-chr14:55368489..55370411,2	MCF-7	breast:
5	chr14:55310463..55313127-chr14:55320351..55323154,2	MCF-7	breast:

Variant related genes	Relation type
RNU6ATAC9P	TF binding region
ENSG00000252019	chromatin interactions
ENSG00000131979	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564067611	chr14:55319827-55319828	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375998100	chr14:55319828-55319829	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546838536	chr14:55319863-55319864	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564784277	chr14:55319864-55319865	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561742296	chr14:55319870-55319871	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188927073	chr14:55319923-55319924	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550838747	chr14:55319985-55319986	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192258691	chr14:55320008-55320009	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558340201	chr14:55320017-55320018	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111925800	chr14:55320022-55320023	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569362845	chr14:55320047-55320048	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539874799	chr14:55320049-55320050	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370053272	chr14:55320090-55320091	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117230317	chr14:55320108-55320109	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs118078557	chr14:55320132-55320133	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17128021	chr14:55320197-55320198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10129528	chr14:55320270-55320271	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184367666	chr14:55320321-55320322	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149266770	chr14:55320351-55320352	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188702663	chr14:55320357-55320358	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374343674	chr14:55320398-55320399	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147385194	chr14:55320455-55320456	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200452216	chr14:55320457-55320458	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559437729	chr14:55320458-55320459	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113388561	chr14:55320469-55320470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367938534	chr14:55320561-55320562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4411417	chr14:55320563-55320564	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563754330	chr14:55320567-55320568	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181416325	chr14:55320649-55320650	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs137901914	chr14:55320656-55320657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562009756	chr14:55320666-55320667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529114832	chr14:55320700-55320701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377101778	chr14:55320733-55320734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559102368	chr14:55320734-55320735	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2878168	chr14:55320785-55320786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs184881235	chr14:55320809-55320810	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35139021	chr14:55320837-55320838	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189290597	chr14:55320866-55320867	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566759025	chr14:55320976-55320977	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147142675	chr14:55321032-55321033	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs180836102	chr14:55321051-55321052	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567933810	chr14:55321081-55321082	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538085201	chr14:55321144-55321145	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187271949	chr14:55321160-55321161	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577780384	chr14:55321170-55321171	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs539156444	chr14:55321214-55321215	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190783712	chr14:55321218-55321219	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143289311	chr14:55321239-55321240	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148677989	chr14:55321313-55321314	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117531555	chr14:55321386-55321387	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305000-55320400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
5	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
7	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:55306400-55336800	Weak transcription	Dnd41	blood
10	chr14:55306600-55321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:55306800-55327400	Weak transcription	Pancreas	Pancrea
13	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:55308400-55320600	Weak transcription	Primary B cells from cord blood	blood
17	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:55308600-55325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:55308600-55325600	Weak transcription	Lung	lung
20	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:55309800-55321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:55309800-55325600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:55309800-55325800	Weak transcription	Thymus	Thymus
25	chr14:55310200-55320200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:55311200-55325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:55311800-55331200	Weak transcription	Hela-S3	cervix
28	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
29	chr14:55312800-55324800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:55313000-55320400	Weak transcription	Stomach Mucosa	stomach
31	chr14:55313000-55322800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:55313000-55325600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:55313000-55325800	Weak transcription	Gastric	stomach
34	chr14:55313200-55320600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:55313200-55320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:55313200-55321000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:55313200-55322800	Weak transcription	Fetal Intestine Small	intestine
38	chr14:55313200-55324200	Weak transcription	Primary T cells from cord blood	blood
39	chr14:55313400-55320800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:55313600-55321000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:55314200-55322600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:55316600-55320600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:55319000-55320400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr14:55319400-55320600	Weak transcription	GM12878-XiMat	blood
45	chr14:55319600-55320200	Enhancers	Liver	Liver
46	chr14:55319600-55324000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:55319600-55324800	Weak transcription	HepG2	liver
48	chr14:55320000-55320400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:55320200-55321600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:55320200-55321600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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